Driscoll M C, Lerner N, Anyane-Yeboa K, Maidman J, Warburton D, Schaefer-Rego K, Hsu R, Ince C, Malin J, Pallai M
Am J Hum Genet. 1987 Jun;40(6):548-58.
We report here an evaluation of 55 pregnancies at risk for a sickle hemoglobinopathy prenatally diagnosed by restriction-endonuclease analysis, with the endonucleases MstII and HpaI, of amniocyte DNA. The diagnosis was completed in all cases. Eleven fetuses were predicted to be affected, of which six were terminated. Forty-one of the 55 cases were confirmed. One false-negative was reported in a case predicted to be hemoglobin AS but that was determined to be hemoglobin SS at birth. We estimate that the 55 cases represent only 5% of the pregnancies at risk for a sickle hemoglobinopathy in the New York metropolitan area during the study period. We conclude that the prenatal diagnosis of sickle hemoglobinopathies by molecular methods is reliable. However, the efficiency of utilization and effectiveness of prenatal testing is dependent on the early prospective identification of couples at risk and on the education of communities concerning the significant morbidity of the sickle hemoglobinopathies and the reproductive choices now available to them.
我们在此报告一项对55例产前诊断有镰状血红蛋白病风险妊娠的评估。这些妊娠通过对羊水细胞DNA进行限制性内切酶分析，使用MstII和HpaI内切酶进行诊断。所有病例均完成诊断。预计有11例胎儿患病，其中6例终止妊娠。55例中有41例得到确诊。有1例假阴性报告，该病例产前预测为血红蛋白AS，但出生时确定为血红蛋白SS。我们估计，在研究期间，这55例仅占纽约大都市地区有镰状血红蛋白病风险妊娠的5%。我们得出结论，通过分子方法进行镰状血红蛋白病的产前诊断是可靠的。然而，产前检测的利用效率和有效性取决于对有风险夫妇的早期前瞻性识别，以及社区对镰状血红蛋白病严重发病率和他们目前可选择的生育方案的教育。
